PHKG2 (phosphorylase kinase catalytic subunit gamma 2)

Gene

• Entrez ID: 5261
• Gene name: Phosphorylase kinase catalytic subunit gamma 2
• Gene symbol: PHKG2
• Synonyms (NCBI Gene): GSD9C
• Disease Acronyms (UniProt): GSD9C
• Chromosome: 16
• Chromosome location: 16p11.2
• Summary: Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic i

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853588	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853589	T>A	Pathogenic	Coding sequence variant, missense variant
rs137853590	C>T	Pathogenic	Coding sequence variant, stop gained
rs137853591	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853592	T>G	Pathogenic	Coding sequence variant, missense variant
rs138416154	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant
rs572115942	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs752961445	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1270523244	C>T	Pathogenic	Coding sequence variant, stop gained
rs1372753669	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1555467052	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555467557	TC>AA	Pathogenic	Stop gained, coding sequence variant
rs1567260747	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1596680941	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596687555	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596687577	G>A	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT045827	hsa-miR-138-5p	CLASH	23622248
MIRT040308	hsa-miR-615-3p	CLASH	23622248
MIRT720509	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT720508	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT720507	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT720506	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT720505	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT720504	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT720503	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT720502	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT720501	hsa-miR-632	HITS-CLIP	19536157
MIRT634426	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT634425	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT634424	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT634423	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT634422	hsa-miR-7162-3p	HITS-CLIP	23824327
MIRT634421	hsa-miR-4284	HITS-CLIP	23824327
MIRT634420	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT486107	hsa-miR-1276	PAR-CLIP	23592263
MIRT441374	hsa-miR-4311	PAR-CLIP	22100165
MIRT441373	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT441372	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT439985	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT439985	hsa-miR-127-5p	HITS-CLIP	24374217
MIRT720509	hsa-miR-939-3p	HITS-CLIP	19536157
MIRT720508	hsa-miR-6852-5p	HITS-CLIP	19536157
MIRT720507	hsa-miR-6742-3p	HITS-CLIP	19536157
MIRT720506	hsa-miR-204-3p	HITS-CLIP	19536157
MIRT720505	hsa-miR-4646-5p	HITS-CLIP	19536157
MIRT720504	hsa-miR-6716-5p	HITS-CLIP	19536157
MIRT720503	hsa-miR-1343-3p	HITS-CLIP	19536157
MIRT720502	hsa-miR-6783-3p	HITS-CLIP	19536157
MIRT720501	hsa-miR-632	HITS-CLIP	19536157
MIRT634426	hsa-miR-3200-5p	HITS-CLIP	23824327
MIRT634425	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT634424	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT634423	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT634422	hsa-miR-7162-3p	HITS-CLIP	23824327
MIRT634421	hsa-miR-4284	HITS-CLIP	23824327
MIRT634420	hsa-miR-6821-5p	HITS-CLIP	23824327
MIRT486107	hsa-miR-1276	PAR-CLIP	23592263
MIRT441374	hsa-miR-4311	PAR-CLIP	22100165
MIRT441373	hsa-miR-3613-3p	PAR-CLIP	22100165
MIRT441372	hsa-miR-4668-5p	PAR-CLIP	22100165
MIRT1231706	hsa-miR-1197	CLIP-seq
MIRT1231707	hsa-miR-1236	CLIP-seq
MIRT1231708	hsa-miR-1275	CLIP-seq
MIRT1231709	hsa-miR-1285	CLIP-seq
MIRT1231710	hsa-miR-1324	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231712	hsa-miR-146a	CLIP-seq
MIRT1231713	hsa-miR-146b-3p	CLIP-seq
MIRT1231714	hsa-miR-146b-5p	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT1231717	hsa-miR-203	CLIP-seq
MIRT1231718	hsa-miR-217	CLIP-seq
MIRT1231719	hsa-miR-3074-5p	CLIP-seq
MIRT1231720	hsa-miR-3157-5p	CLIP-seq
MIRT1231721	hsa-miR-3160-3p	CLIP-seq
MIRT1231722	hsa-miR-3173-5p	CLIP-seq
MIRT1231723	hsa-miR-3187-5p	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT1231725	hsa-miR-339-5p	CLIP-seq
MIRT1231726	hsa-miR-3612	CLIP-seq
MIRT1231727	hsa-miR-3616-3p	CLIP-seq
MIRT1231728	hsa-miR-3622b-5p	CLIP-seq
MIRT1231729	hsa-miR-3664-3p	CLIP-seq
MIRT1231730	hsa-miR-3670	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231733	hsa-miR-3689d	CLIP-seq
MIRT1231734	hsa-miR-370	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT1231736	hsa-miR-3929	CLIP-seq
MIRT1231737	hsa-miR-3937	CLIP-seq
MIRT1231738	hsa-miR-4252	CLIP-seq
MIRT1231739	hsa-miR-4327	CLIP-seq
MIRT1231740	hsa-miR-4418	CLIP-seq
MIRT1231741	hsa-miR-4419b	CLIP-seq
MIRT1231742	hsa-miR-4422	CLIP-seq
MIRT1231743	hsa-miR-4432	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT1231745	hsa-miR-4436a	CLIP-seq
MIRT1231746	hsa-miR-4436b-3p	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT1231748	hsa-miR-4469	CLIP-seq
MIRT1231749	hsa-miR-4478	CLIP-seq
MIRT1231750	hsa-miR-4487	CLIP-seq
MIRT1231751	hsa-miR-451b	CLIP-seq
MIRT1231752	hsa-miR-4522	CLIP-seq
MIRT1231753	hsa-miR-4525	CLIP-seq
MIRT1231754	hsa-miR-4665-5p	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT1231757	hsa-miR-4696	CLIP-seq
MIRT1231758	hsa-miR-4700-3p	CLIP-seq
MIRT1231759	hsa-miR-4722-5p	CLIP-seq
MIRT1231760	hsa-miR-4723-5p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT1231762	hsa-miR-4733-5p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231764	hsa-miR-4793-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT1231767	hsa-miR-483-3p	CLIP-seq
MIRT1231768	hsa-miR-485-5p	CLIP-seq
MIRT1231769	hsa-miR-508-5p	CLIP-seq
MIRT1231770	hsa-miR-509-3-5p	CLIP-seq
MIRT1231771	hsa-miR-509-5p	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231774	hsa-miR-539	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT1231776	hsa-miR-558	CLIP-seq
MIRT1231777	hsa-miR-578	CLIP-seq
MIRT1231778	hsa-miR-612	CLIP-seq
MIRT1231779	hsa-miR-625	CLIP-seq
MIRT1231780	hsa-miR-633	CLIP-seq
MIRT1231781	hsa-miR-637	CLIP-seq
MIRT1231782	hsa-miR-639	CLIP-seq
MIRT1231783	hsa-miR-642a	CLIP-seq
MIRT1231784	hsa-miR-650	CLIP-seq
MIRT1231785	hsa-miR-661	CLIP-seq
MIRT1231786	hsa-miR-665	CLIP-seq
MIRT1231787	hsa-miR-766	CLIP-seq
MIRT1231788	hsa-miR-767-3p	CLIP-seq
MIRT1231789	hsa-miR-874	CLIP-seq
MIRT1231790	hsa-miR-940	CLIP-seq
MIRT1231791	hsa-miR-3120-3p	CLIP-seq
MIRT1231792	hsa-miR-3128	CLIP-seq
MIRT1231793	hsa-miR-320e	CLIP-seq
MIRT1231794	hsa-miR-377	CLIP-seq
MIRT1231795	hsa-miR-4470	CLIP-seq
MIRT2068008	hsa-miR-1205	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT2068009	hsa-miR-1972	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT2068010	hsa-miR-323-5p	CLIP-seq
MIRT2068011	hsa-miR-3616-5p	CLIP-seq
MIRT1231728	hsa-miR-3622b-5p	CLIP-seq
MIRT2068012	hsa-miR-3647-5p	CLIP-seq
MIRT1231734	hsa-miR-370	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT2068013	hsa-miR-4466	CLIP-seq
MIRT2068014	hsa-miR-4640-3p	CLIP-seq
MIRT2068015	hsa-miR-4645-5p	CLIP-seq
MIRT2068016	hsa-miR-4673	CLIP-seq
MIRT2068017	hsa-miR-4676-5p	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT2068018	hsa-miR-4755-3p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT2068019	hsa-miR-4795-5p	CLIP-seq
MIRT2068020	hsa-miR-573	CLIP-seq
MIRT2068021	hsa-miR-575	CLIP-seq
MIRT2068022	hsa-miR-675	CLIP-seq
MIRT2068023	hsa-miR-876-3p	CLIP-seq
MIRT2295428	hsa-miR-1268	CLIP-seq
MIRT2295429	hsa-miR-1268b	CLIP-seq
MIRT1231708	hsa-miR-1275	CLIP-seq
MIRT2295430	hsa-miR-1323	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT1231717	hsa-miR-203	CLIP-seq
MIRT2295431	hsa-miR-3120-5p	CLIP-seq
MIRT2295432	hsa-miR-3126-3p	CLIP-seq
MIRT2295433	hsa-miR-3156-5p	CLIP-seq
MIRT1231721	hsa-miR-3160-3p	CLIP-seq
MIRT2295434	hsa-miR-3176	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT1231726	hsa-miR-3612	CLIP-seq
MIRT2068011	hsa-miR-3616-5p	CLIP-seq
MIRT2068012	hsa-miR-3647-5p	CLIP-seq
MIRT2295435	hsa-miR-3664-5p	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231733	hsa-miR-3689d	CLIP-seq
MIRT2295436	hsa-miR-371-5p	CLIP-seq
MIRT2295437	hsa-miR-371b-5p	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT2295438	hsa-miR-3922-3p	CLIP-seq
MIRT1231738	hsa-miR-4252	CLIP-seq
MIRT1231739	hsa-miR-4327	CLIP-seq
MIRT1231740	hsa-miR-4418	CLIP-seq
MIRT1231742	hsa-miR-4422	CLIP-seq
MIRT1231743	hsa-miR-4432	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT1231750	hsa-miR-4487	CLIP-seq
MIRT1231751	hsa-miR-451b	CLIP-seq
MIRT1231752	hsa-miR-4522	CLIP-seq
MIRT1231753	hsa-miR-4525	CLIP-seq
MIRT1231754	hsa-miR-4665-5p	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT1231757	hsa-miR-4696	CLIP-seq
MIRT2295439	hsa-miR-4701-5p	CLIP-seq
MIRT1231760	hsa-miR-4723-5p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT1231762	hsa-miR-4733-5p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231764	hsa-miR-4793-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT2068019	hsa-miR-4795-5p	CLIP-seq
MIRT2295440	hsa-miR-495	CLIP-seq
MIRT1231769	hsa-miR-508-5p	CLIP-seq
MIRT1231770	hsa-miR-509-3-5p	CLIP-seq
MIRT1231771	hsa-miR-509-5p	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT2295441	hsa-miR-548o	CLIP-seq
MIRT1231776	hsa-miR-558	CLIP-seq
MIRT2068020	hsa-miR-573	CLIP-seq
MIRT2295442	hsa-miR-588	CLIP-seq
MIRT1231779	hsa-miR-625	CLIP-seq
MIRT1231780	hsa-miR-633	CLIP-seq
MIRT1231781	hsa-miR-637	CLIP-seq
MIRT1231782	hsa-miR-639	CLIP-seq
MIRT1231784	hsa-miR-650	CLIP-seq
MIRT1231785	hsa-miR-661	CLIP-seq
MIRT1231786	hsa-miR-665	CLIP-seq
MIRT1231787	hsa-miR-766	CLIP-seq
MIRT1231788	hsa-miR-767-3p	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT1231721	hsa-miR-3160-3p	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT1231726	hsa-miR-3612	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231739	hsa-miR-4327	CLIP-seq
MIRT1231750	hsa-miR-4487	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT2068018	hsa-miR-4755-3p	CLIP-seq
MIRT2392488	hsa-miR-490-3p	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT1231776	hsa-miR-558	CLIP-seq
MIRT1231784	hsa-miR-650	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT2456389	hsa-miR-2114	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT2068011	hsa-miR-3616-5p	CLIP-seq
MIRT2068012	hsa-miR-3647-5p	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT1231736	hsa-miR-3929	CLIP-seq
MIRT1231741	hsa-miR-4419b	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT1231749	hsa-miR-4478	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT1231759	hsa-miR-4722-5p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT2068019	hsa-miR-4795-5p	CLIP-seq
MIRT1231768	hsa-miR-485-5p	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231774	hsa-miR-539	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT2456390	hsa-miR-550a	CLIP-seq
MIRT2068020	hsa-miR-573	CLIP-seq
MIRT1231790	hsa-miR-940	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT2456389	hsa-miR-2114	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT1231736	hsa-miR-3929	CLIP-seq
MIRT1231741	hsa-miR-4419b	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT1231749	hsa-miR-4478	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT1231759	hsa-miR-4722-5p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT1231768	hsa-miR-485-5p	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231774	hsa-miR-539	CLIP-seq
MIRT2456390	hsa-miR-550a	CLIP-seq
MIRT1231790	hsa-miR-940	CLIP-seq
MIRT1231708	hsa-miR-1275	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT2592996	hsa-miR-185	CLIP-seq
MIRT2592997	hsa-miR-1908	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT2456389	hsa-miR-2114	CLIP-seq
MIRT2592998	hsa-miR-2861	CLIP-seq
MIRT2592999	hsa-miR-3150a-3p	CLIP-seq
MIRT2593000	hsa-miR-3175	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT2593001	hsa-miR-335	CLIP-seq
MIRT2068011	hsa-miR-3616-5p	CLIP-seq
MIRT1231728	hsa-miR-3622b-5p	CLIP-seq
MIRT2068012	hsa-miR-3647-5p	CLIP-seq
MIRT2593002	hsa-miR-3656	CLIP-seq
MIRT2593003	hsa-miR-3663-5p	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT1231736	hsa-miR-3929	CLIP-seq
MIRT2593004	hsa-miR-4267	CLIP-seq
MIRT2593005	hsa-miR-4287	CLIP-seq
MIRT2593006	hsa-miR-4306	CLIP-seq
MIRT2593007	hsa-miR-4330	CLIP-seq
MIRT1231741	hsa-miR-4419b	CLIP-seq
MIRT1231742	hsa-miR-4422	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT2593008	hsa-miR-4435	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT2593009	hsa-miR-4460	CLIP-seq
MIRT1231749	hsa-miR-4478	CLIP-seq
MIRT2593010	hsa-miR-4492	CLIP-seq
MIRT2593011	hsa-miR-4498	CLIP-seq
MIRT1231753	hsa-miR-4525	CLIP-seq
MIRT2593012	hsa-miR-4640-5p	CLIP-seq
MIRT2593013	hsa-miR-4644	CLIP-seq
MIRT2593014	hsa-miR-4655-5p	CLIP-seq
MIRT1231754	hsa-miR-4665-5p	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT2593015	hsa-miR-4685-3p	CLIP-seq
MIRT2593016	hsa-miR-4690-5p	CLIP-seq
MIRT2593017	hsa-miR-4695-3p	CLIP-seq
MIRT1231759	hsa-miR-4722-5p	CLIP-seq
MIRT1231760	hsa-miR-4723-5p	CLIP-seq
MIRT2593018	hsa-miR-4726-5p	CLIP-seq
MIRT2593019	hsa-miR-4727-3p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT2068018	hsa-miR-4755-3p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231764	hsa-miR-4793-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT2068019	hsa-miR-4795-5p	CLIP-seq
MIRT1231768	hsa-miR-485-5p	CLIP-seq
MIRT2593020	hsa-miR-491-5p	CLIP-seq
MIRT2295440	hsa-miR-495	CLIP-seq
MIRT1231769	hsa-miR-508-5p	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231774	hsa-miR-539	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT2456390	hsa-miR-550a	CLIP-seq
MIRT2068020	hsa-miR-573	CLIP-seq
MIRT1231779	hsa-miR-625	CLIP-seq
MIRT1231781	hsa-miR-637	CLIP-seq
MIRT1231785	hsa-miR-661	CLIP-seq
MIRT2593021	hsa-miR-663	CLIP-seq
MIRT2593022	hsa-miR-759	CLIP-seq
MIRT2593023	hsa-miR-762	CLIP-seq
MIRT1231787	hsa-miR-766	CLIP-seq
MIRT2593024	hsa-miR-939	CLIP-seq
MIRT1231790	hsa-miR-940	CLIP-seq
MIRT1231711	hsa-miR-141	CLIP-seq
MIRT1231715	hsa-miR-1827	CLIP-seq
MIRT2592996	hsa-miR-185	CLIP-seq
MIRT2592997	hsa-miR-1908	CLIP-seq
MIRT1231716	hsa-miR-200a	CLIP-seq
MIRT2456389	hsa-miR-2114	CLIP-seq
MIRT2592999	hsa-miR-3150a-3p	CLIP-seq
MIRT2593000	hsa-miR-3175	CLIP-seq
MIRT1231724	hsa-miR-3192	CLIP-seq
MIRT2593001	hsa-miR-335	CLIP-seq
MIRT2068011	hsa-miR-3616-5p	CLIP-seq
MIRT1231728	hsa-miR-3622b-5p	CLIP-seq
MIRT2068012	hsa-miR-3647-5p	CLIP-seq
MIRT2593002	hsa-miR-3656	CLIP-seq
MIRT2593003	hsa-miR-3663-5p	CLIP-seq
MIRT1231731	hsa-miR-3689a-3p	CLIP-seq
MIRT1231732	hsa-miR-3689c	CLIP-seq
MIRT1231735	hsa-miR-3919	CLIP-seq
MIRT1231736	hsa-miR-3929	CLIP-seq
MIRT2593004	hsa-miR-4267	CLIP-seq
MIRT2593005	hsa-miR-4287	CLIP-seq
MIRT2593006	hsa-miR-4306	CLIP-seq
MIRT2593007	hsa-miR-4330	CLIP-seq
MIRT1231741	hsa-miR-4419b	CLIP-seq
MIRT1231744	hsa-miR-4433	CLIP-seq
MIRT2593008	hsa-miR-4435	CLIP-seq
MIRT1231747	hsa-miR-4459	CLIP-seq
MIRT1231749	hsa-miR-4478	CLIP-seq
MIRT2593010	hsa-miR-4492	CLIP-seq
MIRT2593011	hsa-miR-4498	CLIP-seq
MIRT2593012	hsa-miR-4640-5p	CLIP-seq
MIRT2593013	hsa-miR-4644	CLIP-seq
MIRT2593014	hsa-miR-4655-5p	CLIP-seq
MIRT1231755	hsa-miR-4683	CLIP-seq
MIRT1231756	hsa-miR-4684-5p	CLIP-seq
MIRT2593015	hsa-miR-4685-3p	CLIP-seq
MIRT2593017	hsa-miR-4695-3p	CLIP-seq
MIRT1231759	hsa-miR-4722-5p	CLIP-seq
MIRT2593018	hsa-miR-4726-5p	CLIP-seq
MIRT1231761	hsa-miR-4728-5p	CLIP-seq
MIRT2068018	hsa-miR-4755-3p	CLIP-seq
MIRT1231763	hsa-miR-4768-3p	CLIP-seq
MIRT1231765	hsa-miR-4793-5p	CLIP-seq
MIRT1231766	hsa-miR-4794	CLIP-seq
MIRT2068019	hsa-miR-4795-5p	CLIP-seq
MIRT1231768	hsa-miR-485-5p	CLIP-seq
MIRT2593020	hsa-miR-491-5p	CLIP-seq
MIRT2295440	hsa-miR-495	CLIP-seq
MIRT1231772	hsa-miR-520a-5p	CLIP-seq
MIRT1231773	hsa-miR-525-5p	CLIP-seq
MIRT1231774	hsa-miR-539	CLIP-seq
MIRT1231775	hsa-miR-548c-3p	CLIP-seq
MIRT2456390	hsa-miR-550a	CLIP-seq
MIRT2068020	hsa-miR-573	CLIP-seq
MIRT2593021	hsa-miR-663	CLIP-seq
MIRT2593022	hsa-miR-759	CLIP-seq
MIRT2593023	hsa-miR-762	CLIP-seq
MIRT2593024	hsa-miR-939	CLIP-seq
MIRT1231790	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004674	Function	Protein serine/threonine kinase activity	TAS	10487978
GO:0004689	Function	Phosphorylase kinase activity	TAS	10487978
GO:0005515	Function	Protein binding	IPI	23455922, 26496610, 28514442, 32296183
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005964	Component	Phosphorylase kinase complex	TAS	10487978
GO:0005977	Process	Glycogen metabolic process	TAS	8896567
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005980	Process	Glycogen catabolic process	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	8896567
GO:0006468	Process	Protein phosphorylation	IEA
GO:0045819	Process	Positive regulation of glycogen catabolic process	TAS	10487978
GO:0050321	Function	Tau-protein kinase activity	TAS	8999860

Other IDs

• MIM: 172471
• HGNC: 8931
• e!Ensembl: ENSG00000156873

Protein

• UniProt ID: P15735
• Protein name: Phosphorylase b kinase gamma catalytic chain, liver/testis isoform (PHK-gamma-LT) (PHK-gamma-T) (EC 2.7.11.19) (PSK-C3) (Phosphorylase kinase subunit gamma-2)
• Protein function: Catalytic subunit of the phosphorylase b kinase (PHK), which mediates the neural and hormonal regulation of glycogen breakdown (glycogenolysis) by phosphorylating and thereby activating glycogen phosphorylase. May regulate glycogeneolysis in the
• PDB: 2Y7J
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00069	Pkinase	24 → 291	Protein kinase domain	Domain

• Sequence:

  MTLDVGPEDELPDWAAAKEFYQKYDPKDVIGRGVSSVVRRCVHRATGHEFAVKIMEVTAE
  RLSPEQLEEVREATRRETHILRQVAGHPHIITLIDSYESSSFMFLVFDLMRKGELFDYLT
  EKVALSEKETRSIMRSLLEAVSFLHANNIVHRDLKPENILLDDNMQIRLSDFGFSCHLEP
  GEKLRELCGTPGYLAPEILKCSMDETHPGYGKEVDLWACGVILFTLLAGSPPFWHRRQIL
  MLRMIMEGQYQFSSPEWDDRSSTVKDLISRLLQVDPEARLTAEQALQHPFFERCEGSQPW
  NLTPRQRFRVAVWTVLAAGRVALSTHRVRPLTKNALLRDPYALRSVRHLIDNCAFRLYGH
  WVKKGEQQNRAALFQHRPPGPFPIMGPEEEGDSAAITEDEAVLVLG

• Sequence length: 406

Pathways

KEGG:

Calcium signaling pathway
Insulin signaling pathway
Glucagon signaling pathway

Reactome:

Glycogen breakdown (glycogenolysis)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039
Developmental delay	Gross motor development delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Glycogen storage disease	Glycogen Storage Disease, Glycogen Storage Disease IXC, Glycogen storage disease due to liver phosphorylase kinase deficiency	rs10250779, rs387906244, rs113994126, rs113994129, rs113994134, rs369973784, rs199922945, rs118203964, rs113994132, rs387906246, rs113994128, rs267606639, rs267606640, rs755419857, rs895690691, rs121918193, rs121918195, rs121918196, rs116987552, rs119103251, rs119103252, rs119103253, rs119103254, rs144081869, rs119103255, rs786200874, rs267606993, rs119103257, rs119103258, rs119103259, rs119103260, rs1474863903, rs764313717, rs397515342, rs80338671, rs137852886, rs80338672, rs137852888, rs80338673, rs397515343, rs137852889, rs137852890, rs137852891, rs1575782181, rs137852892, rs397515344, rs137852894, rs121907936, rs121907937, rs28937909, rs121907938, rs121907940, rs121907941, rs386834236, rs121907939, rs28940868, rs1555603048, rs121907942, rs386834235, rs121907943, rs121907945, rs121908987, rs121908991, rs267606977, rs137852546, rs137852547, rs1603266754, rs137852548, rs137852528, rs137852529, rs431905501, rs137852531, rs137852532, rs137852533, rs137852535, rs137852536, rs137852537, rs137852538, rs431905503, rs137852539, rs137852285, rs137852286, rs587776731, rs137852287, rs137852288, rs587776732, rs137852293, rs137852289, rs137852290, rs137852291, rs137852292, rs137852294, rs587776733, rs2147483647, rs137852295, rs113993982, rs113993974, rs113993977, rs113993981, rs80356488, rs1801175, rs104894563, rs80356487, rs104894566, rs587776757, rs80356484, rs104894565, rs104894567, rs104894568, rs104894569, rs80356482, rs1801176, rs104894571, rs34667348, rs797044442, rs121918021, rs137853588, rs137853589, rs137853590, rs1596680941, rs137853591, rs137853592, rs121918419, rs587776831, rs121918420, rs121918421, rs121918422, rs121918423, rs121918424, rs121434584, rs80356485, rs80356479, rs80356483, rs113994130, rs113994131, rs113993978, rs113993979, rs113993986, rs113993973, rs113993975, rs387906505, rs113993976, rs199948078, rs193922697, rs397514631, rs1325298827, rs140869027, rs398123169, rs398123171, rs398123172, rs369532274, rs398123173, rs398123174, rs398124208, rs398124209, rs398124210, rs587777375, rs527236146, rs527236147, rs370652040, rs143137713, rs727502871, rs369531647, rs730880022, rs730880372, rs201958741, rs730882148, rs796051877, rs752921215, rs786204489, rs781580050, rs771961377, rs370792293, rs786204678, rs786204616, rs786204481, rs786204490, rs776977863, rs786204595, rs786204655, rs769960481, rs767739769, rs786204723, rs755117847, rs764920787, rs780226142, rs367727229, rs786204467, rs201185475, rs786204614, rs786204661, rs767882689, rs528367092, rs370950728, rs757700700, rs786204532, rs201896815, rs543300039, rs786204507, rs786204646, rs786204517, rs770610356, rs770276275, rs147804176, rs772883420, rs140826989, rs786204720, rs786204727, rs781088002, rs549029029, rs368438393, rs536906561, rs374143224, rs757111744, rs786204621, rs786204645, rs786204549, rs780321415, rs786204561, rs202143236, rs786204785, rs374470794, rs771427957, rs150547274, rs113994127, rs193186112, rs794727706, rs794729208, rs797045008, rs192044702, rs797044877, rs150382575, rs201157731, rs863224023, rs869312919, rs764622267, rs878855017, rs1800312, rs886039883, rs886041476, rs779556619, rs757617999, rs143523371, rs886042086, rs201201443, rs886042358, rs761317813, rs142752477, rs142967546, rs766074609, rs770590394, rs144016984, rs886043148, rs778032599, rs886043343, rs886043399, rs886043920, rs775450536, rs755253527, rs758004953, rs766935302, rs886058900, rs1057516189, rs1057516870, rs1057517057, rs1057516567, rs1057517347, rs1057517243, rs777857395, rs1057516868, rs757967016, rs1057516308, rs1057517344, rs1057516397, rs1057516471, rs748789700, rs763554006, rs1057516741, rs1057516948, rs1057516913, rs1057516570, rs1057516563, rs1057516708, rs1057516666, rs1057517136, rs1057517425, rs1057516984, rs1057516254, rs531425980, rs1057516793, rs1057516306, rs1057516952, rs1057516513, rs1057517079, rs764318570, rs1057517017, rs867341758, rs745757264, rs1057517405, rs1057516994, rs1057517315, rs1057516529, rs1057517001, rs1057517058, rs1057517067, rs1057516598, rs753181427, rs1057517442, rs747513238, rs752848974, rs1057516259, rs1057516612, rs749560316, rs1057516468, rs1057517400, rs752851284, rs1057516329, rs1057516629, rs1057517145, rs1057517361, rs1057516349, rs772194378, rs1057516367, rs1057517227, rs1057516674, rs1057517008, rs1057516630, rs749323139, rs1057516858, rs80356486, rs1055945806, rs1057516251, rs1057517165, rs1057516503, rs1057517381, rs1057517320, rs376229714, rs1057516600, rs762260678, rs1057516290, rs1057516785, rs1057516520, rs757458607, rs1057516546, rs1057517286, rs1057516215, rs560575383, rs747610090, rs892129065, rs1057517267, rs1057516426, rs377544304, rs1057516826, rs1057517105, rs753269119, rs778418246, rs1057516928, rs1057516581, rs1057516327, rs1057516328, rs1057516277, rs1057516363, rs777275355, rs1057516924, rs1057517148, rs1057516704, rs1057516341, rs763359208, rs1057518106, rs780883601, rs775685508, rs751952198, rs148842275, rs766733439, rs1064795728, rs1064795749, rs1064796703, rs1064794288, rs375470378, rs1064796706, rs1064797157, rs764567774, rs145166656, rs767409395, rs150911354, rs757681143, rs200483245, rs771069887, rs114073621, rs1553690406, rs774465102, rs758504480, rs143670942, rs1422043936, rs373517016, rs1553188832, rs771853367, rs1553185403, rs12118058, rs1553193463, rs370247862, rs1555602832, rs1555560204, rs1555603264, rs61736895, rs763016962, rs1556016365, rs1555601828, rs991082382, rs1555599713, rs1555136390, rs754134578, rs752002666, rs1553183220, rs1307281520, rs1479740763, rs1555989523, rs1555600102, rs142917638, rs1553185302, rs1553684545, rs1555601234, rs373345919, rs1553183359, rs1556014969, rs760589837, rs776733170, rs1553185474, rs1553186489, rs757987101, rs140095668, rs1188310172, rs1555467052, rs1555467557, rs748363083, rs763027848, rs1555600730, rs1555598796, rs1555988479, rs1556000892, rs1556007472, rs1556002344, rs764591009, rs769172044, rs1555328280, rs1354714214, rs1553183148, rs930434905, rs751112302, rs878959417, rs775498547, rs1443902661, rs1553192718, rs1293077915, rs1553193529, rs1553181400, rs1215043175, rs1553185418, rs1553185883, rs1553183178, rs1553186577, rs1553188559, rs750492389, rs1553188849, rs1432024176, rs1289339080, rs767346840, rs1553190751, rs1553184620, rs755747010, rs1553193486, rs1553184657, rs1327892944, rs1553187237, rs1553185905, rs1553193530, rs1553186613, rs1553187957, rs773095419, rs1553189468, rs1185321132, rs770438130, rs1553190316, rs1555133248, rs1462767117, rs1555136752, rs1163710370, rs1555136208, rs1555136540, rs750857876, rs1555136459, rs187131358, rs1555559741, rs1411037881, rs1485038937, rs1555598687, rs1555598880, rs1555599171, rs1555599586, rs1555599637, rs1555598869, rs1555599644, rs1555599594, rs1555599619, rs1555600050, rs1555599960, rs766680292, rs1555600166, rs996798292, rs1555600575, rs770780848, rs1555601780, rs765362308, rs1209887739, rs1555603216, rs1428358278, rs776948121, rs1555601662, rs1555603131, rs192679574, rs1555559279, rs1189630738, rs1555559991, rs1555560140, rs1555560185, rs1555598460, rs1555598544, rs1555598824, rs1555600111, rs778068209, rs1555600846, rs747150965, rs753505203, rs914396317, rs1555602692, rs1344266804, rs1555558920, rs1457925404, rs1555598800, rs1207988953, rs1555599667, rs1555600061, rs1434761678, rs759518659, rs1555601802, rs1555602703, rs1555602860, rs1555603434, rs1555995635, rs1567825175, rs1567705064, rs1567838823, rs1559637815, rs1557794150, rs756175624, rs146195866, rs781511110, rs759657964, rs1563131309, rs746120293, rs746348793, rs770037766, rs1270523244, rs1567706564, rs1567260747, rs201056962, rs764539267, rs765718882, rs1568619900, rs1569298646, rs1569344469, rs1567828977, rs561646250, rs1569297379, rs1210626722, rs1569300538, rs1256371424, rs747947171, rs1565538121, rs1565536363, rs1569297427, rs1567830317, rs764750389, rs1555603219, rs1567829962, rs1430517061, rs1205507761, rs149244943, rs748262135, rs1556299510, rs780246932, rs752961445, rs1315020035, rs767095759, rs756205397, rs149096315, rs1242540921, rs371296953, rs1303617854, rs766536350, rs1414146587, rs1567835775, rs1567835781, rs1570433472, rs1570508240, rs763216519, rs1598585402, rs1598578030, rs1598581682, rs1592412131, rs1571232214, rs1571232404, rs1571243699, rs1570433686, rs1570438459, rs765367405, rs1206517501, rs1239498701, rs774926455, rs1480850606, rs777589783, rs768604948, rs1592410003, rs1592818641, rs760187622, rs539898848, rs755612674, rs1597988331, rs775826449, rs1232001857, rs200210219, rs1598575231, rs141533320, rs1598582021, rs764670084, rs1448515860, rs886043882, rs1601685358, rs1601689006, rs1601739229, rs1601781024, rs1601781031, rs539203557, rs1212333772, rs372079212, rs765425704, rs776545903, rs1597989985, rs1598592604, rs1597989983, rs1556257317, rs1475559733, rs1598577666, rs1598580364, rs1596687577, rs1372753669, rs1601714299, rs1601747985, rs1601776276, rs1601760689, rs1601763099, rs1571232325, rs1570445130, rs370202718, rs1570487381, rs1576183537, rs1592408302, rs1592409633, rs150483902, rs1596687555, rs762089284, rs1597990895, rs1597990906, rs1597991608, rs1597991733, rs1601687244, rs1601748216, rs1601776523, rs1571243862, rs1592409631, rs1601780766, rs2039275157, rs2039287628, rs1567702823, rs756632286, rs1597990921, rs1576137368, rs1322527832, rs1596047883, rs1650040391, rs780694207, rs758182700, rs1652018859, rs1652879873, rs1654912428, rs1703086906, rs781198373, rs1703800818, rs1490328834, rs1804721948, rs1311913891, rs2058363627, rs1005687078, rs2058388882, rs2058407169, rs2058421657, rs138893744, rs758943884, rs2056023296, rs1401928680, rs764401169, rs2056091436, rs915675670, rs2039038743, rs2039117815, rs2039190879, rs2039192386, rs2039213824, rs766398206, rs2039287852, rs2047467477, rs2047492649, rs2047492720, rs765360653, rs111911126, rs1219299972, rs2047834385, rs2039261208, rs1262967083, rs2047514376, rs2048391185, rs2058357329, rs1598580407, rs2039250790, rs755305465, rs766448695	27604308, 12930917, 8896567, 9245685
Hypercholesterolemia	Hypercholesterolemia	rs28942111, rs28942112, rs137852912, rs121908025, rs28942082, rs28942083, rs121908028, rs121908030, rs28942079, rs28942084, rs121908032, rs387906302, rs387906303, rs121908033, rs121908034, rs387906304, rs387906305, rs121908036, rs387906306, rs121908037, rs200238879, rs121908040, rs267607213, rs121908041, rs121908042, rs145787161, rs121908043, rs121908044, rs121908324, rs1557703339, rs121908325, rs1553170279, rs755104973, rs1461905374, rs781585299, rs121918386, rs587776886, rs193922566, rs137943601, rs193922567, rs193922569, rs193922571, rs144467873, rs137853966, rs137853965, rs377271627, rs144172724, rs139043155, rs368657165, rs146200173, rs368562025, rs139624145, rs370777955, rs373646964, rs137929307, rs374045590, rs139617694, rs730880131, rs730880130, rs730882080, rs200727689, rs557344672, rs730882085, rs730882086, rs730882090, rs544453230, rs730882098, rs570942190, rs193922568, rs730882102, rs730882109, rs201102492, rs730882110, rs793888522, rs793888517, rs146651743, rs794728683, rs794728585, rs376459828, rs768563000, rs794728584, rs375009082, rs869025453, rs869025454, rs758194385, rs769446356, rs869320649, rs869320652, rs875989888, rs551747280, rs544203837, rs875989889, rs875989890, rs875989891, rs875989893, rs875989894, rs771019366, rs563390335, rs875989895, rs875989896, rs875989897, rs875989898, rs769383881, rs875989900, rs537484504, rs875989901, rs199774121, rs875989902, rs875989903, rs121908027, rs875989905, rs875989906, rs577934998, rs121908029, rs875989907, rs875989908, rs875989909, rs11547917, rs875989911, rs875989910, rs875989912, rs761954844, rs875989914, rs767767730, rs875989915, rs875989916, rs875989917, rs765696008, rs552422789, rs28942078, rs875989919, rs875989920, rs875989921, rs875989922, rs875989925, rs875989926, rs875989927, rs875989928, rs875989929, rs875989930, rs875989932, rs370245937, rs875989934, rs875989935, rs875989936, rs875989937, rs775092314, rs875989938, rs875989941, rs875989943, rs750518671, rs28942085, rs876657697, rs756039188, rs878854026, rs878854028, rs878854027, rs879254363, rs879254368, rs879254374, rs879254382, rs879254383, rs879254384, rs201016593, rs879254386, rs879254385, rs879254387, rs879254388, rs879254390, rs879254393, rs879254394, rs879254395, rs879254396, rs879254397, rs879254398, rs879254399, rs879254400, rs2228671, rs879254401, rs776421777, rs879254402, rs879254403, rs879254404, rs879254405, rs879254406, rs879254407, rs879254408, rs879254409, rs879254410, rs879254411, rs879254412, rs879254413, rs879254414, rs879254415, rs754676104, rs387906301, rs879254417, rs879254418, rs879254419, rs879254423, rs879254422, rs879254424, rs879254425, rs879254426, rs879254428, rs879254430, rs879254432, rs879254433, rs879254434, rs1555802710, rs879254435, rs879254436, rs879254437, rs879254438, rs879254439, rs758927662, rs879254440, rs879254442, rs879254443, rs879254445, rs879254447, rs879254446, rs879254448, rs879254452, rs199570811, rs879254453, rs879254455, rs777640882, rs749038326, rs372828849, rs745776977, rs879254456, rs879254457, rs139400379, rs372845091, rs879254458, rs879254459, rs879254460, rs879254461, rs764797225, rs879254464, rs879254463, rs879254465, rs112029328, rs879254466, rs879254467, rs879254470, rs879254471, rs879254472, rs879254475, rs879254476, rs879254477, rs879254478, rs879254479, rs879254480, rs879254481, rs774723292, rs879254482, rs879254485, rs879254483, rs879254484, rs879254487, rs879254488, rs879254489, rs879254490, rs879254491, rs879254492, rs879254493, rs879254494, rs879254496, rs879254497, rs879254499, rs875989899, rs879254500, rs879254501, rs879254502, rs879254503, rs879254505, rs879254504, rs879254506, rs879254507, rs879254509, rs879254510, rs879254512, rs879254514, rs879254515, rs879254516, rs755799528, rs879254517, rs879254518, rs748944640, rs879254519, rs879254520, rs879254521, rs879254522, rs879254523, rs879254524, rs879254525, rs879254526, rs879254528, rs879254530, rs879254531, rs879254532, rs879254533, rs879254534, rs879254535, rs879254536, rs766094434, rs879254537, rs879254538, rs763998635, rs879254540, rs879254542, rs879254543, rs879254545, rs879254546, rs879254547, rs879254548, rs752596535, rs879254549, rs879254550, rs879254551, rs879254552, rs879254554, rs879254555, rs879254557, rs879254556, rs879254558, rs879254560, rs879254559, rs769318035, rs879254561, rs879254562, rs879254563, rs879254565, rs879254564, rs879254566, rs879254567, rs879254568, rs879254569, rs879254570, rs879254572, rs879254571, rs879254573, rs879254574, rs879254575, rs879254577, rs879254579, rs879254580, rs879254581, rs879254582, rs879254584, rs748672083, rs879254588, rs879254591, rs879254592, rs879254593, rs879254594, rs879254595, rs879254596, rs879254597, rs879254598, rs879254599, rs879254600, rs771917370, rs879254602, rs879254605, rs879254606, rs764042910, rs879254607, rs879254608, rs879254610, rs879254609, rs879254611, rs879254612, rs879254613, rs879254614, rs879254615, rs879254616, rs879254358, rs1555803428, rs879254619, rs373822756, rs879254620, rs879254622, rs756613387, rs879254623, rs879254624, rs1555803424, rs879254627, rs879254625, rs879254626, rs879254628, rs879254629, rs879254630, rs1555803414, rs879254631, rs1555803423, rs1555803426, rs879254632, rs879254633, rs879254635, rs879254634, rs879254636, rs879254638, rs1555803427, rs879254639, rs879254640, rs879254641, rs879254642, rs746091400, rs879254644, rs121908035, rs879254645, rs879254646, rs879254647, rs879254651, rs879254652, rs1555803643, rs1555803644, rs879254653, rs879254655, rs879254656, rs879254658, rs879254659, rs879254660, rs879254662, rs879254663, rs879254664, rs879254666, rs759109699, rs879254667, rs879254668, rs879254669, rs879254670, rs879254671, rs879254672, rs879254673, rs879254674, rs879254675, rs879254677, rs879254678, rs879254681, rs879254682, rs879254683, rs773328511, rs879254684, rs879254685, rs879254686, rs879254688, rs879254689, rs879254691, rs879254692, rs730882089, rs879254693, rs140241383, rs375495026, rs879254697, rs879254696, rs879254699, rs879254700, rs879254701, rs879254702, rs879254703, rs879254704, rs879254705, rs879254706, rs879254708, rs879254710, rs879254712, rs767618089, rs879254713, rs879254714, rs879254716, rs879254717, rs757252110, rs879254718, rs879254719, rs879254720, rs879254721, rs879254723, rs879254725, rs879254727, rs879254728, rs13306512, rs879254729, rs879254734, rs112366278, rs879254735, rs879254736, rs746834464, rs879254737, rs879254738, rs879254739, rs879254740, rs879254743, rs879254744, rs879254745, rs879254746, rs879254747, rs879254748, rs879254749, rs767024374, rs879254751, rs879254752, rs879254753, rs879254754, rs879254755, rs879254757, rs755757866, rs879254758, rs777524402, rs730882096, rs879254760, rs879254761, rs879254762, rs879254763, rs879254764, rs748300548, rs879254765, rs879254767, rs879254768, rs879254769, rs13306515, rs879254770, rs879254771, rs879254773, rs879254774, rs755449669, rs879254775, rs879254777, rs879254778, rs879254781, rs879254780, rs879254782, rs879254783, rs879254784, rs879254786, rs879254788, rs879254789, rs746982741, rs879254791, rs768430352, rs113669610, rs879254792, rs879254794, rs879254796, rs879254797, rs879254799, rs1555804777, rs879254800, rs773064328, rs879254801, rs879254802, rs1555804793, rs879254804, rs879254805, rs879254807, rs879254806, rs879254811, rs879254812, rs879254814, rs879254813, rs879254815, rs879254816, rs879254817, rs879254820, rs879254819, rs879254821, rs879254823, rs879254824, rs879254826, rs879254827, rs879254828, rs879254829, rs879254830, rs879254832, rs879254833, rs879254835, rs879254837, rs879254838, rs879254839, rs879254840, rs879254841, rs879254842, rs879254844, rs879254846, rs773658037, rs869320651, rs774439908, rs879254848, rs879254849, rs879254850, rs879254851, rs879254854, rs879254855, rs879254856, rs745343524, rs879254857, rs879254858, rs779732323, rs879254859, rs879254862, rs879254863, rs879254864, rs879254865, rs879254866, rs879254867, rs879254868, rs879254869, rs879254872, rs879254873, rs879254874, rs775924858, rs879254875, rs531005522, rs879254879, rs879254880, rs879254881, rs879254882, rs879254883, rs879254884, rs879254885, rs879254886, rs879254887, rs879254888, rs879254892, rs879254893, rs201967266, rs879254896, rs879254898, rs879254899, rs879254901, rs879254902, rs879254904, rs879254907, rs879254906, rs879254913, rs879254915, rs879254916, rs879254918, rs879254919, rs751603969, rs879254921, rs879254922, rs879254923, rs755667663, rs879254924, rs730882103, rs879254927, rs879254929, rs879254930, rs879254931, rs879254932, rs879254933, rs879254935, rs879254939, rs879254941, rs755389753, rs879254945, rs879254947, rs879254948, rs879254949, rs879254950, rs879254951, rs746939188, rs879254952, rs879254955, rs879254956, rs879254957, rs879254958, rs879254959, rs769370816, rs879254962, rs879254963, rs879254964, rs879254965, rs759876319, rs879254966, rs28942081, rs879254967, rs879254970, rs879254969, rs879254971, rs28941776, rs879254973, rs879254972, rs879254975, rs879254976, rs879254977, rs879254978, rs879254979, rs879254980, rs879254981, rs879254982, rs879254985, rs879254984, rs879254986, rs879254988, rs879254989, rs746959386, rs879254990, rs879254991, rs879254994, rs879254996, rs879254998, rs879254999, rs879255000, rs138947766, rs879255001, rs879255003, rs879255004, rs879255005, rs879255006, rs879255007, rs879255009, rs879255008, rs879255011, rs879255012, rs879255013, rs879255014, rs879255015, rs879255016, rs875989931, rs879255019, rs879255020, rs879255021, rs879255022, rs879255026, rs753707206, rs879255027, rs879255028, rs879255029, rs879255031, rs879255032, rs879255033, rs879255034, rs879255035, rs879255038, rs879255037, rs879255039, rs879255041, rs879255044, rs879255046, rs879255049, rs879255050, rs879255051, rs879255052, rs747134711, rs879255053, rs879255054, rs879255055, rs875989933, rs879255057, rs879255058, rs879255059, rs879255060, rs879255061, rs879255063, rs879255065, rs879255066, rs879255069, rs879255068, rs879255070, rs754536745, rs879255073, rs879255076, rs879255077, rs879255078, rs879255079, rs879255082, rs1555807275, rs879255088, rs879255089, rs879255090, rs879255092, rs773693079, rs879255093, rs879255096, rs879255097, rs879255098, rs1555807306, rs879255101, rs879255102, rs879255104, rs752935814, rs879255106, rs150021927, rs879255107, rs879255109, rs879255108, rs879255110, rs879255112, rs770744861, rs745753810, rs879255113, rs879255114, rs879255115, rs879255116, rs879255117, rs760436036, rs879255118, rs201637900, rs121908031, rs879255120, rs879255121, rs2569548, rs879255122, rs879255123, rs879255124, rs879255126, rs879255125, rs879255127, rs751228587, rs879255128, rs879255130, rs369943481, rs879255131, rs879255132, rs879255133, rs879255134, rs112954220, rs776217028, rs879255135, rs879255136, rs879255138, rs879255139, rs879255140, rs879255141, rs879255142, rs879255144, rs879255145, rs879255146, rs879255147, rs879255153, rs879255155, rs879255156, rs879255157, rs879255158, rs879255159, rs879255160, rs879255161, rs879255163, rs879255164, rs370018159, rs879255166, rs879255167, rs879255168, rs879255169, rs879255172, rs879255174, rs763625913, rs879255175, rs879255176, rs879255177, rs879255178, rs879255181, rs879255185, rs879255186, rs879255188, rs879255187, rs767790696, rs879255193, rs879255194, rs879255196, rs879255197, rs879255198, rs879255200, rs879255202, rs879255204, rs773618064, rs879255207, rs879255209, rs879255210, rs879255212, rs879255213, rs879255215, rs879255217, rs747344293, rs879255218, rs879255219, rs879255222, rs377437226, rs879255224, rs879255227, rs879255229, rs1555803632, rs886039829, rs886039830, rs886039831, rs1057515537, rs774615547, rs1057516129, rs1057516132, rs1057516133, rs1057516135, rs777326720, rs751122998, rs1057516130, rs774069731, rs879254847, rs1057516134, rs867272973, rs1057516127, rs763147599, rs1057519647, rs1057519648, rs1057519649, rs1057519650, rs751317621, rs774016801, rs1057519652, rs1057519653, rs1057519654, rs1555803257, rs1057519655, rs879254601, rs1057519657, rs1057519662, rs879254618, rs1057519659, rs1057519660, rs1057519661, rs1057519663, rs1057519664, rs1057519665, rs1057519666, rs373869746, rs879254803, rs1057519668, rs1057519669, rs1057519670, rs1057519671, rs1057519672, rs1057519673, rs1057519674, rs879254993, rs1057519676, rs1057519679, rs1057519682, rs1057519683, rs1057519685, rs1057519687, rs1057519690, rs1060499931, rs1060499919, rs1064792905, rs1060499921, rs1060499922, rs1555805127, rs1060499923, rs1060499924, rs1060499926, rs1060499927, rs1555808044, rs1555808111, rs1060499930, rs770696696, rs1060500988, rs1060500987, rs879254637, rs1064794259, rs1555800611, rs1131692189, rs1555802312, rs1131692191, rs1131692192, rs1555803259, rs1131692193, rs1131692194, rs121908039, rs1131692195, rs1131692197, rs1131692198, rs148698650, rs1131692201, rs1131692202, rs879254715, rs370471092, rs1131692203, rs1131692204, rs1131692205, rs1131692206, rs1131692207, rs1131692208, rs1131692209, rs1131692210, rs1131692211, rs1131692214, rs1131692215, rs1131692217, rs1555806546, rs1131692219, rs879255095, rs1131692220, rs1131692221, rs200793488, rs1131692223, rs1131692224, rs1131692225, rs1131692226, rs1135402767, rs1555805507, rs1553137543, rs1382988295, rs1555802270, rs934496989, rs1555806455, rs1555807335, rs1555803481, rs1555804717, rs1372204035, rs1553135930, rs1057519691, rs1254346075, rs1553137693, rs1553137699, rs886046435, rs1553382295, rs1553382319, rs1553382325, rs1442815965, rs747606537, rs5742904, rs1553385404, rs1553385715, rs1555800620, rs1555800631, rs1555800632, rs1555800648, rs1555800724, rs1555802242, rs1555802245, rs1555802258, rs1555802287, rs200660051, rs1398808477, rs1555802822, rs752191968, rs1555803191, rs1555803213, rs879254529, rs754933794, rs1555803327, rs1555803337, rs1555803354, rs1013147010, rs1555803383, rs1555803391, rs753319170, rs1555803409, rs1555803432, rs1555803449, rs1555803641, rs1555803701, rs1555803837, rs1555803841, rs1555803879, rs1555803891, rs1555804443, rs1555804700, rs730882099, rs1225797407, rs879254871, rs1555805337, rs1555805348, rs1555805360, rs1555805380, rs1555805490, rs1555805530, rs1555805531, rs1555805985, rs1555806110, rs1555806448, rs1555806467, rs1555806582, rs778408161, rs1555807261, rs1555807390, rs1555807388, rs1555807421, rs1555807465, rs1555807475, rs1555808008, rs1555808107, rs1555808114, rs1555808118, rs1555808120, rs1555808139, rs875989942, rs1555809471, rs1555809490, rs1555809520, rs1555800701, rs762417023, rs1555802259, rs1555802291, rs1555803186, rs1555803254, rs1555803280, rs879254541, rs1555803455, rs1555803439, rs1555803471, rs1555803912, rs1555804467, rs1555804545, rs1555805947, rs879254992, rs1555807356, rs1555808143, rs1555805930, rs1201229554, rs1555806529, rs779921498, rs1555807206, rs753151497, rs1208216597, rs1555803908, rs1323416354, rs1555805409, rs1555805413, rs774467219, rs1555806088, rs1568600415, rs777903106, rs1568606711, rs1568610747, rs1568600459, rs1568592055, rs1568582652, rs1568591929, rs1568594903, rs1568600328, rs1600743301, rs750383461, rs1600683731, rs1600704961, rs1600715039, rs1600720921, rs1555804729, rs1600727337, rs1600727715, rs1600732894, rs1600726930, rs1600742966, rs1600762098, rs1600765031, rs1600715089, rs879255149, rs1600715567, rs1600732566, rs1257344396, rs1572802096, rs763778803, rs2044384127, rs2077272442, rs2077276411, rs2077276612, rs2077282480, rs2077297994, rs879254707, rs2077361078, rs2077408020, rs2077409930, rs2077412367, rs2077417709, rs2077419273, rs2077459772, rs2077475503, rs2077534881, rs762148512, rs140807148, rs2077460968, rs2077315885, rs2077271255
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131

Unknown
Disease term	Disease name	Evidence	References	Source
Cirrhosis	Cirrhosis			ClinVar
Glycogen Storage Disease	glycogen storage disease due to liver phosphorylase kinase deficiency			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
Acidosis Lactic	Associate	35549678
Adenoma Liver Cell	Associate	24389071
Breast Neoplasms	Associate	24884718
Carcinoma Renal Cell	Associate	36081434
Colorectal Neoplasms	Associate	26486455
Endometrial Neoplasms	Associate	34170849
Glycogen Storage Disease	Associate	22899091, 30659246, 35549678
Glycogen Storage Disease Type II	Associate	24389071, 35549678
Glycogen Storage Disease Type Ix	Associate	24389071
Glycogen Storage Disease Type VI	Associate	24389071
Growth Disorders	Associate	35549678
Hepatomegaly	Associate	35549678
Jaundice	Associate	35549678
Liver Cirrhosis	Associate	24389071
Liver Diseases	Associate	35549678
Liver Failure	Associate	24389071